title: Genetic syndromic immunodeficiencies with antibody defects.
abstract: This article reviews the major syndromic immunodeficiencies with significant antibody defects, many of which may require intravenous immunogammaglobulin therapy. The authors define syndromic immunodeficiency as an illness associated with a characteristic group of phenotypic abnormalities or laboratory features that comprise a recognizable syndrome. Many are familial with a defined inheritance pattern. Immunodeficiency may not be a major part of the illness and may not be present in all patients; thus, these conditions differ from primary immunodeficiency syndromes, in which immune abnormalities are a consistent and prominent feature of their disease.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Ming
authors.forename: E Richard
authors.initials: ER
authors.lastname: Stiehm
mesh_terms: D049628:Body Size / Q000235:genetics / Q000276:immunology*; D000013:Congenital Abnormalities / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007116:Immunization, Passive; D007136:Immunoglobulins / Q000172:deficiency / Q000235:genetics; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D009928:Organ Specificity; D010375:Pedigree
chemical_list: D007136:Immunoglobulins; D016756:Immunoglobulins, Intravenous